Title: Aplasia of Tibia –Ectrodactyly Syndrome – A  Rare  Disease

Authors: Dr N.L.N.Moorthy, Dr Padmaja .S, Dr M. Vitaleshwar Rao, Dr Harshini Reddy

 DOI:  https://dx.doi.org/10.18535/jmscr/v5i6.187

Abstract

 Also called as split hand/foot malformation with long bone deficiency, aplasia tibia and ectrodactyly is an  extremely rare and isolated trait with degree of  deficiency of tibia and  fibula occurring at an incidence of 1: 1,000,000 live births. We report a case of a 9 year old boy who presented with unilateral lower limb malformation along with ectrodactyly.   

Key Words:  Split Hand/Foot Malformation- Tibial Aplasia – Plain Radiographs.

References

1.      Stefan Mundlos and Denise Horn  Chap; reduction anomalies: split hand foot malformation  in Limb Malformations: an atlas of genetic disorders of limb development, Springer Verlag, Berlin 2014  page 229-231.

2.      Kenneth Lyons Jones, Marilyn Crandall Jones, Miguel del Campo in : Smith’s recognizable patterns of human malformations 7th edition Elsevier Canada

3.      Majewski F, Kuster W, ter Haar B, Goecke T.Aplasia  of tibia  with split –hand /split –foot deformity. Report  of six families with 35 cases  and considerations  about variability and penetrance Hum Genet 1985 ; 70(2): p 136-47

4.      Lee ML, Chen M Tibial agenesis- ectrodactyly syndrome associated with novel cardiovascular and brochopul-monary malformations Clin Dysmorphol 2007 jan ; 16 (1): 47-9

5.      Karina Lezirovitz,  Sylvia Regina Pedrosa Maestrelli,  Nelson Henderson Cotrim. Paulo A.Otto.  Peter L.Pearson. Rehgina Celia Mingroni-Netto A novel locus for split-hand /foot malformation associated  with tibial hemimelia(SHFLD  syndrome ) maps to chromosome region 17p13.1-17p13.3 Hum Genet (2008) 123: p625-631 

6.      http://www.fetalultrasound.com/online/text/30-104 .HTM

7.      M.Dreyfus J,J.Baldauf,E.Rigaut J,M. Clavert,B.Gasser, J.Ritter Prenatal diagnosis of unilateral tibial hemimelia Ultrasound Obstet Gynecol 7 (1996) p 205-206.

8.      Akhil M.Kulkarni,Bharath Madanlal Jain, Muralidhar Laxmanrao Kulkarni, Bhagyavathi Muralidhar Kulkarni Tibial aplasia with ectrodactyly- a rare case report. Journal of research in radiodiagnosis, teleradiology  and imaging JRRTI 2016;vol2.issue 2.july-december 2016 ; page 18-19 .

9.      Neha Sinha, Mark A. Seeley ,Daniel S.Horwitz, Andrea H.Seeley  Pediatric orthgenomics: the latest trends and controversies AIMS medical science 2017 4(2): 192-216.

Corresponding Author

Dr Padmaja .S

Department of Radiology, Apollo Institute of Medical Science and Research,

Jubilee Hills, Hyderabad 500096 Telangana  India

Email: This email address is being protected from spambots. You need JavaScript enabled to view it., Mobile: 9652965345